Related Experiment Video
Updated: Jan 7, 2026
Longitudinal In Vivo Imaging of the Cerebrovasculature: Relevance to CNS Diseases
Published on: December 6, 2016
Perivascular spaces and basilar artery remodeling in Fabry disease-a dual vascular pathology
Jieun Roh1, Chong Kun Cheon2, Soo-Yong Lee3
1Department of Radiology, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Pusan National University School of Medicine, Busan, Republic of Korea.
Background:
Fabry disease (FD) is a lysosomal storage disorder that causes glycosphingolipid deposition in the vascular endothelium. Early neurovascular involvement is difficult to detect because conventional magnetic resonance imaging (MRI) findings overlap with age-related small- and large-vessel changes. We hypothesized that integrating microvascular and macrovascular MRI markers could improve the detection of FD-related vasculopathy.
Methods:
In a prospective case-control study, 26 genetically confirmed FD patients and 26 age- and sex-matched healthy controls underwent three-Tesla MRI (3 T MRI), including high-resolution vessel wall imaging. The macrovascular metrics included the basilar artery (BA) diameter, BA tortuosity index (BATI), and a composite BA degeneration index (BADI). The microvascular markers included the perivascular space (PVS) burden (Potter scale), white matter lesion severity (modified Fazekas scale), and global cerebral atrophy. Associations with FD were assessed using multivariable logistic regression, adjusting for age, sex, and vascular risk factors. Correlations between microvascular and macrovascular markers and age-stratified analyses were also performed.
Results:
Patients with FD exhibited a larger BA diameter, higher PVS burden in the basal ganglia and centrum semiovale, and greater cerebral atrophy than controls, while Fazekas scores were similar. Both PVS burden and BA diameter were independently associated with FD after adjustment, and the PVS burden remained significant after controlling for vascular risk factors. In patients with FD, but not in controls, the PVS burden correlated positively with the BADI, indicating coupled microvascular and macrovascular remodeling. Age-stratified analyses revealed steeper increases in BA metrics and PVS burden with advancing age in patients with FD, suggesting accelerated vascular degeneration.
Conclusion:
Combining the PVS burden with posterior circulation remodeling indices (BA diameter/BADI) reveals the disease-specific coupling of microvascular and macrovascular degeneration in FD. This quantitative MRI approach may enable earlier diagnosis, more precise risk stratification, and monitoring of therapeutic responses in clinical practice.
Insights
Integrating microvascular and macrovascular MRI markers, such as perivascular space burden and basilar artery diameter, can improve the detection of Fabry disease (FD)-related vasculopathy. This approach reveals coupled degeneration and aids in earlier diagnosis and risk stratification.
Area of Science:
- Neuroimaging
- Vascular Biology
- Genetics
Background:
- Fabry disease (FD) is a lysosomal storage disorder causing glycosphingolipid deposition in vascular endothelium.
- Early neurovascular involvement in FD is challenging to detect due to overlapping conventional MRI findings with age-related changes.
- Integrating microvascular and macrovascular MRI markers may enhance the detection of FD-related vasculopathy.
Purpose of the Study:
- To investigate the utility of integrating microvascular and macrovascular MRI markers for detecting vasculopathy in Fabry disease.
- To assess the association between specific MRI markers and the presence of FD.
- To explore the relationship between microvascular and macrovascular changes in FD patients.
Main Methods:
- Prospective case-control study involving 26 FD patients and 26 healthy controls.
- Three-Tesla MRI (3T MRI) with high-resolution vessel wall imaging was performed.
- Macrovascular metrics included basilar artery (BA) diameter, tortuosity index (BATI), and degeneration index (BADI); microvascular markers included perivascular space (PVS) burden, white matter lesion severity (Fazekas scale), and cerebral atrophy.
Main Results:
- FD patients showed larger BA diameter, higher PVS burden, and greater cerebral atrophy compared to controls.
- PVS burden and BA diameter were independently associated with FD, with PVS burden remaining significant after controlling for vascular risk factors.
- In FD patients, PVS burden positively correlated with BADI, indicating coupled microvascular and macrovascular remodeling, and steeper increases with age suggesting accelerated degeneration.
Conclusions:
- Combining PVS burden with posterior circulation remodeling indices (BA diameter/BADI) highlights disease-specific coupling of micro- and macrovascular degeneration in FD.
- This quantitative MRI approach may facilitate earlier diagnosis of Fabry disease.
- The findings suggest potential for improved risk stratification and monitoring of therapeutic responses in clinical practice.
